Variant information



Systematic Name c.[1363G>T];[=]
Protein name p.[Glu455*];[=]
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[1363G>T];[=] p.[Glu455*];[=] nonsense C-term Mutation associated with disease Male Rett syndrome-male variant 4198